학술논문
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'학술논문'
에서 검색결과 179건 | 목록
1~20
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
Giret, Chloé ; Charrière, Sybil ; Feillet, François ; Fouilhoux, Alain ; Astudillo, Leonardo ; Lavigne, Christian ; Arnoux, Jean-Baptiste ; Odent, Sylvie ; Gay, Claire ; Schiff, Manuel ; Mazodier, Karin ; Kuster, Alice ; Rigalleau, Vincent ; Thauvin, Christel ; Leguy-Seguin, Vanessa ; Lêvesque, Hervé ; Sacaze, Elise ; Besson, Gérard ; Thoreau, Benjamin ; Le Gouge, Amélie ; Gissot, Valérie ; Douillard, Claire ; Maillot, François
In Molecular Genetics and Metabolism December 2025
Academic Journal
Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric ; Wallaard, Ilse ; Verhagen, Rob ; Studencka-Turski, Maja ; Duffourd, Yannis ; Moutton, Sébastien ; Tran Mau-Them, Frédédic ; Philippe, Christophe ; Dean, John ; Tennant, Stephen ; Brooks, Alice S. ; van Slegtenhorst, Marjon A. ; Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man ; England, Eleina M. ; Martinez Ojeda, Mayra ; Engle, Elizabeth C. ; Robson, Caroline D. ; Morrow, Michelle ; Innes, A. Micheil ; Lamont, Ryan ; Sanderson, Matthea ; Krüger, Elke ; Thauvin, Christel ; Distel, Ben ; Faivre, Laurence ; Elgersma, Ype ; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Nicolas, Gaël ; Zaréa, Aline ; Lacour, Morgane ; Quenez, Olivier ; Rousseau, Stéphane ; Richard, Anne-Claire ; Bonnevalle, Antoine ; Schramm, Catherine ; Olaso, Robert ; Sandron, Florian ; Boland, Anne ; Deleuze, Jean-François ; Andriuta, Daniela ; Anthony, Pierre ; Auriacombe, Sophie ; Balageas, Anna-Chloé ; Ballan, Guillaume ; Barbay, Mélanie ; Béjot, Yannick ; Belliard, Serge ; Benaiteau, Marie ; Bennys, Karim ; Bombois, Stéphanie ; Boutoleau-Bretonnière, Claire ; Branger, Pierre ; Carlier, Jasmine ; Cartz-Piver, Leslie ; Cassagnaud, Pascaline ; Ceccaldi, Mathieu-Pierre ; Chauviré, Valérie ; Chen, Yaohua ; Cogez, Julien ; Cognat, Emmanuel ; Contegal-Callier, Fabienne ; Corneille, Léa ; Couratier, Philippe ; Cretin, Benjamin ; Crinquette, Charlotte ; Dauriat, Benjamin ; Dautricourt, Sophie ; de la Sayette, Vincent ; de Liège, Astrid ; Deffond, Didier ; Demurger, Florence ; Deramecourt, Vincent ; Derollez, Céline ; Dionet, Elsa ; Doco Fenzy, Martine ; Dumurgier, Julien ; Dutray, Anaïs ; Etcharry-Bouyx, Frédérique ; Formaglio, Maïté ; Gabelle, Audrey ; Gainche-Salmon, Anne ; Godefroy, Olivier ; Graber, Mathilde ; Gregoire, Chloé ; Grimaldi, Stephan ; Gueniat, Julien ; Gueriot, Claude ; Guillet-Pichon, Virginie ; Haffen, Sophie ; Hanta, Cezara-Roxana ; Hardy, Clémence ; Hautecloque, Geoffroy ; Heitz, Camille ; Hourregue, Claire ; Jonveaux, Thérèse ; Jurici, Snejana ; Koric, Lejla ; Krolak-Salmon, Pierre ; Lagarde, Julien ; Lanoiselée, Hélène-Marie ; Laurens, Brice ; Le Ber, Isabelle ; Le Guyader, Gwenaël ; Leblanc, Amélie ; Lebouvier, Thibaud ; Levy, Richard ; Lippi, Anaïs ; Mackowiak, Marie-Anne ; Magnin, Eloi ; Marelli, Cecilia ; Martinaud, Olivier ; Maureille, Aurelien ; Migliaccio, Raffaella ; Milongo-Rigal, Emilie ; Mohr, Sophie ; Mollion, Hélène ; Morin, Alexandre ; Nivelle, Julia ; Noiray, Camille ; Olivieri, Pauline ; Paquet, Claire ; Pariente, Jérémie ; Pasquier, Florence ; Perron, Alexandre ; Philippi, Nathalie ; Planche, Vincent ; Pouclet-Courtemanche, Hélène ; Rafiq, Marie ; Rollin-Sillaire, Adeline ; Roué-Jagot, Carole ; Saracino, Dario ; Sarazin, Marie ; Sauvée, Mathilde ; Sellal, François ; Teichmann, Marc ; Thauvin, Christel ; Thomas, Quentin ; Tisserand, Camille ; Turpinat, Cédric ; Van Damme, Laurène ; Vercruysse, Olivier ; Villain, Nicolas ; Wagemann, Nathalie ; Charbonnier, Camille ; Wallon, David
In Genetics in Medicine May 2024 26(5)
Academic Journal
Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal ; Jackson, Adam ; Banka, Siddharth ; Pfundt, Rolph ; de Vries, Bert B.A. ; van Jaarsveld, Richard H. ; Hopman, Saskia M.J. ; van Binsbergen, Ellen ; Valenzuela, Irene ; Hempel, Maja ; Bierhals, Tatjana ; Kortüm, Fanny ; Lecoquierre, Francois ; Goldenberg, Alice ; Hertz, Jens Michael ; Andersen, Charlotte Brasch ; Kibæk, Maria ; Prijoles, Eloise J. ; Stevenson, Roger E. ; Everman, David B. ; Patterson, Wesley G. ; Meng, Linyan ; Gijavanekar, Charul ; De Dios, Karl ; Lakhani, Shenela ; Levy, Tess ; Wagner, Matias ; Wieczorek, Dagmar ; Benke, Paul J. ; Lopez Garcia, María Soledad ; Perrier, Renee ; Sousa, Sergio B. ; Almeida, Pedro M. ; Simões, Maria José ; Isidor, Bertrand ; Deb, Wallid ; Schmanski, Andrew A. ; Abdul-Rahman, Omar ; Philippe, Christophe ; Bruel, Ange-Line ; Faivre, Laurence ; Vitobello, Antonio ; Thauvin, Christel ; Smits, Jeroen J. ; Garavelli, Livia ; Caraffi, Stefano G. ; Peluso, Francesca ; Davis-Keppen, Laura ; Platt, Dylan ; Royer, Erin ; Leeuwen, Lisette ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tiller, George E. ; Bosch, Daniëlle G.M. ; Potgieter, Stephanus T. ; Joss, Shelagh ; Splitt, Miranda ; Holden, Simon ; Prapa, Matina ; Foulds, Nicola ; Douzgou, Sofia ; Puura, Kaija ; Waltes, Regina ; Chiocchetti, Andreas G. ; Freitag, Christine M. ; Satterstrom, F. Kyle ; De Rubeis, Silvia ; Buxbaum, Joseph ; Gelb, Bruce D. ; Branko, Aleksic ; Kushima, Itaru ; Howe, Jennifer ; Scherer, Stephen W. ; Arado, Alessia ; Baldo, Chiara ; Patat, Olivier ; Bénédicte, Demeer ; Lopergolo, Diego ; Santorelli, Filippo M. ; Haack, Tobias B. ; Dufke, Andreas ; Bertrand, Miriam ; Falb, Ruth J. ; Rieß, Angelika ; Krieg, Peter ; Spranger, Stephanie ; Bedeschi, Maria Francesca ; Iascone, Maria ; Josephi-Taylor, Sarah ; Roscioli, Tony ; Buckley, Michael F. ; Liebelt, Jan ; Dagli, Aditi I. ; Aten, Emmelien ; Hurst, Anna C.E. ; Hicks, Alesha ; Suri, Mohnish ; Aliu, Ermal ; Naik, Sunil ; Sidlow, Richard ; Coursimault, Juliette ; Nicolas, Gaël ; Küpper, Hanna ; Petit, Florence ; Ibrahim, Veyan ; Top, Deniz ; Di Cara, Francesca ; Louie, Raymond J. ; Stolerman, Elliot ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 1 June 2023 110(6):963-978
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan, Jr.; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. 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In Human Genetics and Genomics Advances 13 April 2023 4(2)
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In Genetics in Medicine April 2023 25(4)
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In The American Journal of Human Genetics 2 March 2023 110(3):499-515
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In European Journal of Medical Genetics February 2022 65(2)
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In European Journal of Medical Genetics January 2022 65(1)
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In Genetics in Medicine August 2021 23(8):1484-1491
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In Genetics in Medicine July 2020 22(7):1215-1226
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In Molecular Genetics and Metabolism Reports September 2017 12:103-109
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Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard H.; Hopman, Saskia M.J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George E.; Bosch, Daniëlle G.M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C.E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E.L.M.; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 6 November 2025 112(11):2814-2814
Academic Journal
Colson, Cindy; Tessarech, Marine; Boucher‐Brischoux, Elise; Boute‐Benejean, Odile; Vincent‐Delorme, Catherine; Vanlerberghe, Clémence; Boussion, Simon; Cunff, Justine Le; Duban‐Bedu, Bénédicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange‐Line; Tran Mau‐Them, Frédéric; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Lévy, Jonathan; Patat, Olivier; Rio, Marlène
Academic Journal
Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry ; Zaki, Maha S. ; Ciolfi, Andrea ; Paccaud, Julien ; Girodon, François ; Boespflug-Tanguy, Odile ; Besnard, Thomas ; Kerkhof, Jennifer ; McConkey, Haley ; Masson, Aymeric ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Trochu, Eva ; Vignard, Virginie ; El It, Fatima ; Rodan, Lance H. ; Alkhateeb, Mohammad Ayman ; Jamra, Rami Abou ; Duplomb, Laurence ; Tisserant, Emilie ; Duffourd, Yannis ; Bruel, Ange-Line ; Jackson, Adam ; Banka, Siddharth ; McEntagart, Meriel ; Saggar, Anand ; Gleeson, Joseph G. ; Sievert, David ; Bae, Hyunwoo ; Lee, Beom Hee ; Kwon, Kisang ; Seo, Go Hun ; Lee, Hane ; Saeed, Anjum ; Anjum, Nadeem ; Cheema, Huma ; Alawbathani, Salem ; Khan, Imran ; Pinto-Basto, Jorge ; Teoh, Joyce ; Wong, Jasmine ; Sahari, Umar Bin Mohamad ; Houlden, Henry ; Zhelcheska, Kristina ; Pannetier, Melanie ; Awad, Mona A. ; Lesieur-Sebellin, Marion ; Barcia, Giulia ; Amiel, Jeanne ; Delanne, Julian ; Philippe, Christophe ; Faivre, Laurence ; Odent, Sylvie ; Bertoli-Avella, Aida ; Thauvin, Christel ; Sadikovic, Bekim ; Reversade, Bruno ; Maroofian, Reza ; Govin, Jérôme ; Tartaglia, Marco ; Vitobello, Antonio
In The American Journal of Human Genetics 6 October 2022 109(10):1909-1922
Academic Journal
Hannequin, Didier; Campion, Dominique; Wallon, David; Martinaud, Olivier; Zarea, Aline; Nicolas, Gaël; Rollin-Sillaire, Adeline; Bombois, Stéphanie; Mackowiak, Marie-Anne; Deramecourt, Vincent; Pasquier, Florence; Michon, Agnès; Le Ber, Isabelle; Dubois, Bruno; Godefroy, Olivier; Etcharry-Bouyx, Frédérique; Chauviré, Valérie; Chamard, Ludivine; Berger, Eric; Magnin, Eloi; Dartigues, Jean-Francois; Auriacombe, Sophie; Tison, François; Sayette, Vincent de la; Castan, Dominique; Dionet, Elsa; Sellal, Francois; Rouaud, Olivier; Thauvin, Christel; Moreaud, Olivier; Sauvée, Mathilde; Formaglio, Maïté; Mollion, Hélène; Roullet-Solignac, Isabelle; Vighetto, Alain; Croisile, Bernard; Didic, Mira; Félician, Olivier; Koric, Lejla; Ceccaldi, Mathieu; Gabelle, Audrey; Marelli, Cecilia; Labauge, Pierre; Jonveaux, Thérèse; Vercelletto, Martine; Boutoleau-Bretonnière, Claire; Castelnovo, Giovanni; Paquet, Claire; Dumurgier, Julien; Hugon, Jacques; De Boisgueheneuc, Foucauld; Belliard, Serge; Bakchine, Serge; Sarazin, Marie; Barrellon, Marie-Odile; Laurent, Bernard; Blanc, Frédéric; Pariente, Jérémie; Jurici, Snejana; Bellenguez, Céline ; Charbonnier, Camille ; Grenier-Boley, Benjamin ; Quenez, Olivier ; Le Guennec, Kilan ; Chauhan, Ganesh ; Rousseau, Stéphane ; Richard, Anne Claire ; Boland, Anne ; Bourque, Guillaume ; Munter, Hans Markus ; Olaso, Robert ; Meyer, Vincent ; Letenneur, Luc ; Redon, Richard ; Dartigues, Jean-François ; Tzourio, Christophe ; Frebourg, Thierry ; Lathrop, Mark ; Deleuze, Jean-François ; Genin, Emmanuelle ; Amouyel, Philippe ; Debette, Stéphanie ; Lambert, Jean-Charles
In Neurobiology of Aging November 2017 59:220-220
Academic Journal
Gérard, Laurène; Delourme, Mégane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonnière, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; De La Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Mélanie; Hadouiri, Nawale; Kouton, Ludivine; Laforêt, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Véronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaëlle; Magdinier, Frédérique
European Journal of Human Genetics. 33(6):784-792
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